KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1
OMIM: 176261, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red KCNE1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Red KCNE1 in Short QT syndrome


Version 3.10
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Emory Genetics Laboratory
    • Long QT syndrome (Version 1.5)
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    • Long QT syndrome 5, OMIM:613695
    Green KCNE1 in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    • Long QT syndrome 5, OMIM:613695
    Red KCNE1 in Catecholaminergic polymorphic VT

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Literature
    Phenotypes
    • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
    Red KCNE1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    Green KCNE1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    • Long QT syndrome 5, OMIM:613695
    Green KCNE1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    Red KCNE1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
    • Long QT syndrome 5, OMIM:613695
    Green KCNE1 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Long QT syndrome 5, 613695
    • Jervell and Lange-Nielsen syndrome 2, 612347